Human Phenotype Ontology

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Hello! Guest! Please Login or Register! Clinician Mode

Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Grandparent Node:
Hypopituitarism (HP:0040075)

Parent Node:
Anterior hypopituitarism (HP:0000830)

..Starting node
..Panhypopituitarism (HP:0000871)

Term ID:

871

Name:

Panhypopituitarism

Synonym:

Definition:

A pituitary functional deficit affecting all the anterior pituitary hormones (growth hormone, thyroid-stimulating hormone, follicle-stimulating hormone, luteinizing hormone, adrenocorticotropic hormone, and prolactin).

Comments:

Reference:

HP:0000871

Genes and Diseases:

Child Nodes:

Sister Nodes:

Abnormal prolactin level (HP:0040086)

Adrenocorticotropic hormone deficiency (HP:0011748)

Decreased response to growth hormone stimulation test (HP:0000824)

Gonadotropin deficiency (HP:0008213)

Pituitary hypothyroidism (HP:0008245)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0000871	HP:0000871	Panhypopituitarism	0	CDON CL E G H	50937	17104	ORPHA:93925	Alobar holoprosencephaly	HP:0040283 - Occasional	200
HP:0000871	HP:0000871	Panhypopituitarism	0	CDON CL E G H	50937	17104	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional	200
HP:0000871	HP:0000871	Panhypopituitarism	0	CDON CL E G H	50937	17104	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional	200
HP:0000871	HP:0000871	Panhypopituitarism	0	CDON CL E G H	50937	17104	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040283 - Occasional	200
HP:0000871	HP:0000871	Panhypopituitarism	0	CDON CL E G H	50937	17104	ORPHA:220386	Semilobar holoprosencephaly	HP:0040283 - Occasional	200
HP:0000871	HP:0000871	Panhypopituitarism	0	DISP1 CL E G H	84976	19711	ORPHA:93925	Alobar holoprosencephaly	HP:0040283 - Occasional	22
HP:0000871	HP:0000871	Panhypopituitarism	0	DISP1 CL E G H	84976	19711	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional	22
HP:0000871	HP:0000871	Panhypopituitarism	0	DISP1 CL E G H	84976	19711	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional	22
HP:0000871	HP:0000871	Panhypopituitarism	0	DISP1 CL E G H	84976	19711	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040283 - Occasional	22
HP:0000871	HP:0000871	Panhypopituitarism	0	DISP1 CL E G H	84976	19711	ORPHA:220386	Semilobar holoprosencephaly	HP:0040283 - Occasional	22
HP:0000871	HP:0000871	Panhypopituitarism	0	DLL1 CL E G H	28514	2908	ORPHA:93925	Alobar holoprosencephaly	HP:0040283 - Occasional	3
HP:0000871	HP:0000871	Panhypopituitarism	0	DLL1 CL E G H	28514	2908	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional	3
HP:0000871	HP:0000871	Panhypopituitarism	0	DLL1 CL E G H	28514	2908	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional	3
HP:0000871	HP:0000871	Panhypopituitarism	0	DLL1 CL E G H	28514	2908	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040283 - Occasional	3
HP:0000871	HP:0000871	Panhypopituitarism	0	DLL1 CL E G H	28514	2908	ORPHA:220386	Semilobar holoprosencephaly	HP:0040283 - Occasional	3
HP:0000871	HP:0000871	Panhypopituitarism	0	FGF8 CL E G H	2253	3686	ORPHA:93925	Alobar holoprosencephaly	HP:0040283 - Occasional	17
HP:0000871	HP:0000871	Panhypopituitarism	0	FGF8 CL E G H	2253	3686	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional	17
HP:0000871	HP:0000871	Panhypopituitarism	0	FGF8 CL E G H	2253	3686	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional	17
HP:0000871	HP:0000871	Panhypopituitarism	0	FGF8 CL E G H	2253	3686	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040283 - Occasional	17
HP:0000871	HP:0000871	Panhypopituitarism	0	FGF8 CL E G H	2253	3686	ORPHA:220386	Semilobar holoprosencephaly	HP:0040283 - Occasional	17
HP:0000871	HP:0000871	Panhypopituitarism	0	FGFR1 CL E G H	2260	3688	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional	172
HP:0000871	HP:0000871	Panhypopituitarism	0	FGFR1 CL E G H	2260	3688	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional	172
HP:0000871	HP:0000871	Panhypopituitarism	0	FGFR1 CL E G H	2260	3688	ORPHA:220386	Semilobar holoprosencephaly	HP:0040283 - Occasional	172
HP:0000871	HP:0000871	Panhypopituitarism	0	FOXH1 CL E G H	8928	3814	ORPHA:93925	Alobar holoprosencephaly	HP:0040283 - Occasional	48
HP:0000871	HP:0000871	Panhypopituitarism	0	FOXH1 CL E G H	8928	3814	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional	48
HP:0000871	HP:0000871	Panhypopituitarism	0	FOXH1 CL E G H	8928	3814	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional	48
HP:0000871	HP:0000871	Panhypopituitarism	0	FOXH1 CL E G H	8928	3814	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040283 - Occasional	48
HP:0000871	HP:0000871	Panhypopituitarism	0	FOXH1 CL E G H	8928	3814	ORPHA:220386	Semilobar holoprosencephaly	HP:0040283 - Occasional	48
HP:0000871	HP:0000871	Panhypopituitarism	0	GAS1 CL E G H	2619	4165	ORPHA:93925	Alobar holoprosencephaly	HP:0040283 - Occasional	2
HP:0000871	HP:0000871	Panhypopituitarism	0	GAS1 CL E G H	2619	4165	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional	2
HP:0000871	HP:0000871	Panhypopituitarism	0	GAS1 CL E G H	2619	4165	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional	2
HP:0000871	HP:0000871	Panhypopituitarism	0	GAS1 CL E G H	2619	4165	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040283 - Occasional	2
HP:0000871	HP:0000871	Panhypopituitarism	0	GAS1 CL E G H	2619	4165	ORPHA:220386	Semilobar holoprosencephaly	HP:0040283 - Occasional	2
HP:0000871	HP:0000871	Panhypopituitarism	0	GLI2 CL E G H	2736	4318	ORPHA:93925	Alobar holoprosencephaly	HP:0040283 - Occasional	173
HP:0000871	HP:0000871	Panhypopituitarism	0	GLI2 CL E G H	2736	4318	OMIM:610829	Holoprosencephaly 9		173
HP:0000871	HP:0000871	Panhypopituitarism	0	GLI2 CL E G H	2736	4318	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional	173
HP:0000871	HP:0000871	Panhypopituitarism	0	GLI2 CL E G H	2736	4318	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional	173
HP:0000871	HP:0000871	Panhypopituitarism	0	GLI2 CL E G H	2736	4318	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040283 - Occasional	173
HP:0000871	HP:0000871	Panhypopituitarism	0	GLI2 CL E G H	2736	4318	ORPHA:220386	Semilobar holoprosencephaly	HP:0040283 - Occasional	173
HP:0000871	HP:0000871	Panhypopituitarism	0	GLI3 CL E G H	2737	4319	OMIM:146510	Pallister-Hall syndrome		270
HP:0000871	HP:0000871	Panhypopituitarism	0	GLI3 CL E G H	2737	4319	ORPHA:672	Pallister-Hall syndrome	HP:0040283 - Occasional	270
HP:0000871	HP:0000871	Panhypopituitarism	0	GRM7 CL E G H	2917	4599	OMIM:618922	NEURODEVELOPMENTAL DISORDER WITH SEIZURES, HYPOTONIA, AND BRAIN IMAGING ABNORMALITIES; NEDSHBA		5
HP:0000871	HP:0000871	Panhypopituitarism	0	HESX1 CL E G H	8820	4877	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function	HP:0040282 - Frequent	21
HP:0000871	HP:0000871	Panhypopituitarism	0	KATNIP CL E G H	23247	29068	OMIM:616784	JOUBERT SYNDROME 26; JBTS26
HP:0000871	HP:0000871	Panhypopituitarism	0	LHX3 CL E G H	8022	6595	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function	HP:0040282 - Frequent	51
HP:0000871	HP:0000871	Panhypopituitarism	0	LHX4 CL E G H	89884	21734	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function	HP:0040282 - Frequent	43
HP:0000871	HP:0000871	Panhypopituitarism	0	MADD CL E G H	8567	6766	OMIM:619004	DEEAH SYNDROME; DEEAH		5
HP:0000871	HP:0000871	Panhypopituitarism	0	NODAL CL E G H	4838	7865	ORPHA:93925	Alobar holoprosencephaly	HP:0040283 - Occasional	45
HP:0000871	HP:0000871	Panhypopituitarism	0	NODAL CL E G H	4838	7865	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional	45
HP:0000871	HP:0000871	Panhypopituitarism	0	NODAL CL E G H	4838	7865	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional	45
HP:0000871	HP:0000871	Panhypopituitarism	0	NODAL CL E G H	4838	7865	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040283 - Occasional	45
HP:0000871	HP:0000871	Panhypopituitarism	0	NODAL CL E G H	4838	7865	ORPHA:220386	Semilobar holoprosencephaly	HP:0040283 - Occasional	45
HP:0000871	HP:0000871	Panhypopituitarism	0	PLCH1 CL E G H	23007	29185	ORPHA:93925	Alobar holoprosencephaly	HP:0040283 - Occasional
HP:0000871	HP:0000871	Panhypopituitarism	0	POU1F1 CL E G H	5449	9210	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function	HP:0040282 - Frequent	36
HP:0000871	HP:0000871	Panhypopituitarism	0	PROP1 CL E G H	5626	9455	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function	HP:0040282 - Frequent	54
HP:0000871	HP:0000871	Panhypopituitarism	0	PROP1 CL E G H	5626	9455	OMIM:262600	Pituitary hormone deficiency, combined, 2	.	54
HP:0000871	HP:0000871	Panhypopituitarism	0	PTCH1 CL E G H	5727	9585	ORPHA:93925	Alobar holoprosencephaly	HP:0040283 - Occasional	665
HP:0000871	HP:0000871	Panhypopituitarism	0	PTCH1 CL E G H	5727	9585	OMIM:610828	Holoprosencephaly 7		665
HP:0000871	HP:0000871	Panhypopituitarism	0	PTCH1 CL E G H	5727	9585	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional	665
HP:0000871	HP:0000871	Panhypopituitarism	0	PTCH1 CL E G H	5727	9585	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional	665
HP:0000871	HP:0000871	Panhypopituitarism	0	PTCH1 CL E G H	5727	9585	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040283 - Occasional	665
HP:0000871	HP:0000871	Panhypopituitarism	0	PTCH1 CL E G H	5727	9585	ORPHA:220386	Semilobar holoprosencephaly	HP:0040283 - Occasional	665
HP:0000871	HP:0000871	Panhypopituitarism	0	SHH CL E G H	6469	10848	ORPHA:93925	Alobar holoprosencephaly	HP:0040283 - Occasional	67
HP:0000871	HP:0000871	Panhypopituitarism	0	SHH CL E G H	6469	10848	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional	67
HP:0000871	HP:0000871	Panhypopituitarism	0	SHH CL E G H	6469	10848	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional	67
HP:0000871	HP:0000871	Panhypopituitarism	0	SHH CL E G H	6469	10848	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040283 - Occasional	67
HP:0000871	HP:0000871	Panhypopituitarism	0	SHH CL E G H	6469	10848	ORPHA:220386	Semilobar holoprosencephaly	HP:0040283 - Occasional	67
HP:0000871	HP:0000871	Panhypopituitarism	0	SIX3 CL E G H	6496	10889	ORPHA:93925	Alobar holoprosencephaly	HP:0040283 - Occasional	32
HP:0000871	HP:0000871	Panhypopituitarism	0	SIX3 CL E G H	6496	10889	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional	32
HP:0000871	HP:0000871	Panhypopituitarism	0	SIX3 CL E G H	6496	10889	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional	32
HP:0000871	HP:0000871	Panhypopituitarism	0	SIX3 CL E G H	6496	10889	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040283 - Occasional	32
HP:0000871	HP:0000871	Panhypopituitarism	0	SIX3 CL E G H	6496	10889	ORPHA:220386	Semilobar holoprosencephaly	HP:0040283 - Occasional	32
HP:0000871	HP:0000871	Panhypopituitarism	0	SMC1A CL E G H	8243	11111	ORPHA:220386	Semilobar holoprosencephaly	HP:0040283 - Occasional	135
HP:0000871	HP:0000871	Panhypopituitarism	0	SOX3 CL E G H	6658	11199	OMIM:300123	Mental retardation, X-linked, with isolated growth hormone deficiency	.	24
HP:0000871	HP:0000871	Panhypopituitarism	0	SOX3 CL E G H	6658	11199	OMIM:312000	Panhypopituitarism, X-linked	.	24
HP:0000871	HP:0000871	Panhypopituitarism	0	STAG2 CL E G H	10735	11355	ORPHA:93925	Alobar holoprosencephaly	HP:0040283 - Occasional	1
HP:0000871	HP:0000871	Panhypopituitarism	0	STAG2 CL E G H	10735	11355	ORPHA:220386	Semilobar holoprosencephaly	HP:0040283 - Occasional	1
HP:0000871	HP:0000871	Panhypopituitarism	0	STIL CL E G H	6491	10879	ORPHA:93925	Alobar holoprosencephaly	HP:0040283 - Occasional	99
HP:0000871	HP:0000871	Panhypopituitarism	0	STIL CL E G H	6491	10879	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional	99
HP:0000871	HP:0000871	Panhypopituitarism	0	STIL CL E G H	6491	10879	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040283 - Occasional	99
HP:0000871	HP:0000871	Panhypopituitarism	0	STIL CL E G H	6491	10879	ORPHA:220386	Semilobar holoprosencephaly	HP:0040283 - Occasional	99
HP:0000871	HP:0000871	Panhypopituitarism	0	SUFU CL E G H	51684	16466	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional	124
HP:0000871	HP:0000871	Panhypopituitarism	0	TDGF1 CL E G H	6997	11701	ORPHA:93925	Alobar holoprosencephaly	HP:0040283 - Occasional	1
HP:0000871	HP:0000871	Panhypopituitarism	0	TDGF1 CL E G H	6997	11701	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional	1
HP:0000871	HP:0000871	Panhypopituitarism	0	TDGF1 CL E G H	6997	11701	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional	1
HP:0000871	HP:0000871	Panhypopituitarism	0	TDGF1 CL E G H	6997	11701	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040283 - Occasional	1
HP:0000871	HP:0000871	Panhypopituitarism	0	TDGF1 CL E G H	6997	11701	ORPHA:220386	Semilobar holoprosencephaly	HP:0040283 - Occasional	1
HP:0000871	HP:0000871	Panhypopituitarism	0	TGIF1 CL E G H	7050	11776	ORPHA:93925	Alobar holoprosencephaly	HP:0040283 - Occasional	32
HP:0000871	HP:0000871	Panhypopituitarism	0	TGIF1 CL E G H	7050	11776	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional	32
HP:0000871	HP:0000871	Panhypopituitarism	0	TGIF1 CL E G H	7050	11776	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional	32
HP:0000871	HP:0000871	Panhypopituitarism	0	TGIF1 CL E G H	7050	11776	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040283 - Occasional	32
HP:0000871	HP:0000871	Panhypopituitarism	0	TGIF1 CL E G H	7050	11776	ORPHA:220386	Semilobar holoprosencephaly	HP:0040283 - Occasional	32
HP:0000871	HP:0000871	Panhypopituitarism	0	ZIC2 CL E G H	7546	12873	ORPHA:93925	Alobar holoprosencephaly	HP:0040283 - Occasional	34
HP:0000871	HP:0000871	Panhypopituitarism	0	ZIC2 CL E G H	7546	12873	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional	34
HP:0000871	HP:0000871	Panhypopituitarism	0	ZIC2 CL E G H	7546	12873	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional	34
HP:0000871	HP:0000871	Panhypopituitarism	0	ZIC2 CL E G H	7546	12873	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040283 - Occasional	34
HP:0000871	HP:0000871	Panhypopituitarism	0	ZIC2 CL E G H	7546	12873	ORPHA:220386	Semilobar holoprosencephaly	HP:0040283 - Occasional	34

Genes (30) :CDON DISP1 DLL1 FGF8 FGFR1 FOXH1 GAS1 GLI2 GLI3 GRM7 HESX1 KATNIP LHX3 LHX4 MADD NODAL PLCH1 POU1F1 PROP1 PTCH1 SHH SIX3 SMC1A SOX3 STAG2 STIL SUFU TDGF1 TGIF1 ZIC2

Diseases (16) :ORPHA:93925 ORPHA:93924 ORPHA:280200 ORPHA:93926 ORPHA:220386 OMIM:610829 OMIM:146510 ORPHA:672 OMIM:618922 ORPHA:226307 OMIM:616784 OMIM:619004 OMIM:262600 OMIM:610828 OMIM:300123 OMIM:312000

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.

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